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Motion analysis of a child with Niemann–Pick disease type C treated with miglustat
Author(s) -
Paciorkowski Alex R.,
Westwell Melany,
Õunpuu Sylvia,
Bell Katharine,
Kagan Jeanne,
Mazzarella Cindy,
Greenstein Robert M.
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21779
Subject(s) - niemann–pick disease, type c , physical medicine and rehabilitation , medicine , disease , pathological , pediatrics , physical therapy , clinical trial , dementia
Niemann–Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. This article describes the use of computerized three‐dimensional motion analysis to evaluate a 3‐year‐old child with NPC treated with miglustat for 12 months. Motion analysis provided quantitative data on the patient's gait. However, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study. Motion analysis should be considered among the tools for measuring functional outcomes in future therapeutical trials of patients with neurodegenerative diseases. It is not possible to draw conclusions about miglustat therapy in NPC from a single patient experience. © 2007 Movement Disorder Society